NM_000059.4(BRCA2):c.631+1G>A AND Breast-ovarian cancer, familial, susceptibility to, 2

Germline classification:: Pathogenic/Likely pathogenic (4 submissions)
Last evaluated:: Feb 27, 2017
Review status:: 2 stars out of maximum of 4 stars
criteria provided, multiple submitters, no conflicts

Somatic classification of clinical impact:: None
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Somatic classification of oncogenicity:: None
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Record status:: current
Accession:: RCV000113913.14

Allele description [Variation Report for NM_000059.4(BRCA2):c.631+1G>A]

NM_000059.4(BRCA2):c.631+1G>A

Gene:

BRCA2:BRCA2 DNA repair associated [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

13q13.1

Genomic location:

Preferred name:

NM_000059.4(BRCA2):c.631+1G>A

Other names:

IVS7+1G>A

HGVS:

NC_000013.11:g.32326614G>A
NG_012772.3:g.16135G>A
NM_000059.4:c.631+1G>AMANE SELECT
NM_001406719.1:c.631+1G>A
NM_001406720.1:c.631+1G>A
NM_001406721.1:c.631+1G>A
NM_001406722.1:c.262+1G>A
LRG_293t1:c.631+1G>A
LRG_293:g.16135G>A
NC_000013.10:g.32900751G>A
NM_000059.3:c.631+1G>A
U43746.1:n.859+1G>A

Nucleotide change:

IVS7DS, G-A, +1

Links:

Breast Cancer Information Core (BIC) (BRCA2): 859+1&base_change=G to A; OMIM: 600185.0033; dbSNP: rs81002897

NCBI 1000 Genomes Browser:

rs81002897

Molecular consequence:

NM_000059.4:c.631+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001406719.1:c.631+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001406720.1:c.631+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001406721.1:c.631+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001406722.1:c.262+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]

Observations:

Condition(s)

Name:: Breast-ovarian cancer, familial, susceptibility to, 2 (BROVCA2)
Synonyms:: Breast-ovarian cancer, familial 2
Identifiers:: MONDO: MONDO:0012933; MedGen: C2675520; Orphanet: 145; OMIM: 612555

Recent activity

Clear Turn Off Turn On

Sturnira tildae voucher FMNH 174860 cytochrome b (cytb) gene, complete cds; mito...
Sturnira tildae voucher FMNH 174860 cytochrome b (cytb) gene, complete cds; mitochondrial
gi|501418775|gb|KC753889.1|

Nucleotide
Appendix A - Criteria for Determining Disability in Infants and Children: Short ...
Appendix A - Criteria for Determining Disability in Infants and Children: Short Stature

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

Help

Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000147335	Breast Cancer Information Core (BIC) (BRCA2)	no assertion criteria provided	Pathogenic (Dec 23, 2003)	germline	clinical testing
SCV000327383	Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA), c/o University of Cambridge	criteria provided, single submitter (CIMBA Mutation Classification guidelines May 2016)	Pathogenic (Oct 2, 2015)	germline	clinical testing	CIMBA_Mutation_Classification_guidelines_May16.pdf, Citation Link,
SCV000677667	Counsyl	criteria provided, single submitter (Counsyl Autosomal Dominant Disease Classification criteria (2015))	Likely pathogenic (Feb 27, 2017)	unknown	clinical testing	PubMed (6) [See all records that cite these PMIDs] 15004464, 15070707, 22962691, 16825431, 23983145, 25525159 Citation Link,
SCV004243892	BRCAlab, Lund University	no assertion criteria provided	Pathogenic (Mar 2, 2020)	germline	clinical testing

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	unknown	not provided	1	not provided	not provided	not provided	clinical testing
not provided	germline	yes	not provided	not provided	not provided	not provided	not provided	clinical testing
not provided	unknown	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing
Western European	germline	yes	1	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Screening Fanconi anemia lymphoid cell lines of non-A, C, D2, E, F, G subtypes for defects in BRCA2/FANCD1.

Popp H, Kalb R, Fischer A, Lobitz S, Kokemohr I, Hanenberg H, Schindler D.

Cytogenet Genome Res. 2003;103(1-2):54-7.

PubMed [citation]

PMID:: 15004464

Germline mutations in BRCA2: shared genetic susceptibility to breast cancer, early onset leukemia, and Fanconi anemia.

Wagner JE, Tolar J, Levran O, Scholl T, Deffenbaugh A, Satagopan J, Ben-Porat L, Mah K, Batish SD, Kutler DI, MacMillan ML, Hanenberg H, Auerbach AD.

Blood. 2004 Apr 15;103(8):3226-9. Epub 2004 Jan 8.

PubMed [citation]

PMID:: 15070707

See all PubMed Citations (6)

Details of each submission

From Breast Cancer Information Core (BIC) (BRCA2), SCV000147335.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	Western European	1	not provided	not provided	clinical testing	not provided

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	yes	not provided	not provided	not provided		1	not provided	not provided	not provided

From Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA), c/o University of Cambridge, SCV000327383.4

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	not provided

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	unknown	not provided	not provided	not provided		not provided	not provided	1	not provided

From Counsyl, SCV000677667.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (6)

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	unknown	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

From BRCAlab, Lund University, SCV004243892.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	not provided

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	yes	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Nov 3, 2024

ClinVar

Relating variation to medicine